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Article

Maintaining the balance: both gain- and loss-of-function KCNA2 mutants cause epileptic encephalopathy.

Clinical genetics - 1 Aug 2015

Drögemöller B I

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Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 25997620
DOI: 10.1111/cge.12615

Genes

KCNA2

Provenance

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Related research

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Maintaining the balance: both gain- and loss-of-function KCNA2 mutants cause epileptic encephalopathy.PMID 25997620Read ↗

Roles of KCNA2 in Neurological Diseases: from Physiology to PathologySemantic proximity Read ↗

Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutationSemantic proximity Read ↗

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.Semantic proximity Read ↗

Potassium Channel Gain of Function in Epilepsy: An Unresolved ParadoxSemantic proximity Read ↗

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.Semantic proximity Read ↗

Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum.Semantic proximity Read ↗

An adult with KCNA2-related epilepsy and ataxia.Semantic proximity Read ↗

Functional characterization and in vitro pharmacological rescue of a novel KCNA2 variant associated with developmental and epileptic encephalopathy.Semantic proximity Read ↗

Tracking the motion of the KV1.2 voltage sensor reveals the molecular perturbations caused by a de novo mutation in a case of epilepsy.Semantic proximity Read ↗

4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy.Semantic proximity Read ↗

Conditional Upregulation of KCC2 selectively enhances neuronal inhibition during seizuresSemantic proximity Read ↗

The KCC2 Cotransporter and Human Epilepsy: Getting Excited About Inhibition.Semantic proximity Read ↗

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